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1.
Curr Psychiatry Rep ; 24(2): 129-140, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35076887

RESUMO

PURPOSE OF THE REVIEW: In this review, we focus on overlapping features of ADHD and anxiety disorders, and will discuss how an anxiety disorder comorbidity leads to diagnostic and treatment challenges in patients with ADHD, in consideration of the accumulated available knowledge. RECENT FINDINGS: The presence of overlapping symptoms, changes in the diagnostic criteria, and the use of divergent diagnostic tools and informant effects can complicate the diagnosis of this comorbidity. Due to the ongoing debate about the etiology, psychopathology, and diagnostic features of the association between ADHD and anxiety disorders, choosing appropriate treatment options emerges as a challenge. A novel methodology, standardized interview tools, and new statistical analysis methods are needed to define the phenotype of this co-occurrence more clearly. It is important to uncover the developmental nature of this comorbidity with follow-up studies that may explain the etiology and underlying neurobiological basis, and ultimately lead to more effective treatment approaches.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/terapia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Comorbidade , Humanos , Psicopatologia , Resultado do Tratamento
2.
Mol Genet Genomic Med ; 9(8): e1739, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34268892

RESUMO

BACKGROUND: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies. METHODS: We recruited 131 patients (108 males, 23 females) with ASD and macrocephaly between the ages of 3 and 18 from five child and adolescent psychiatry clinics in Turkey from July 2018 to December 2019. We defined macrocephaly as occipito-frontal HC size at or greater than 2 standard deviations (SD) above the mean for age and sex on standard growth charts. PTEN gene sequence analysis was performed using a MiSeq next generation sequencing (NGS) platform, (Illumina). CONCLUSION: PTEN gene sequence analyses identified three pathogenic/likely pathogenic mutations [NM_000314.6; p.(Pro204Leu), (p.Arg233*) and novel (p.Tyr176Cys*8)] and two variants of uncertain significance (VUS) [NM_000314.6; p.(Ala79Thr) and c.*10del]. We also report that patient with (p.Tyr176Cys*8) mutation has Grade 1 hepatosteatosis, a phenotype not previously described. This is the first PTEN prevalence study of patients with ASD and macrocephaly in Turkey and South Eastern Europe region with a largest homogenous cohort. The prevalence of PTEN mutations was found 3.8% (VUS included) or 2.29% (VUS omitted). We recommend testing for PTEN mutations in all patients with ASD and macrocephaly.


Assuntos
Transtorno do Espectro Autista/genética , Megalencefalia/genética , PTEN Fosfo-Hidrolase/genética , Adolescente , Criança , Pré-Escolar , Feminino , Frequência do Gene , Humanos , Masculino , Mutação , Turquia
3.
Telemed J E Health ; 27(9): 1068-1073, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33232640

RESUMO

Background: This article presents the results of a comprehensive national model developed for managing maladaptive behaviors (MBs) in children with mental special needs (CMSNs) during the coronavirus disease 2019 (COVID-19) pandemic that combines telehealth-based Applied Behavioral Analyses, psychiatric interventions, and support from local psychosocial teams. This study aims to determine the effectiveness of a system that combined telehealth applications with local psychosocial support teams, allowing services from video calls to emergency interventions. Materials and Methods: The system combines the telehealth applications with the services from local psychosocial intervention teams. In addition to system records covering sociodemographic variables and initial complaints, a telephone survey questioning the effectiveness and satisfaction of the system was used as the main outcome. Results: In total, 347 individuals used the system with mothers constituting the majority of applicants (88.7%, n = 332). The overall satisfaction of the system was 8.8/10. In terms of effectiveness, 63.3% (n = 237) of caregivers reported an improvement in the reason of application. Counselors decided on a need for follow-up visits for 36.6% (n = 137) of applications. A referral to a psychiatrist was asked for 40 patients (10.6%). Discussion: To our best knowledge, this is the first study presenting a model for managing MBs of CMSNs during the COVID-19 outbreak. In general, therefore, it seems that there is a need for unique systems to handle behavioral problems of CMSNs. Conclusions: The findings of this study suggest that it is possible to establish an integrative multistep multidisciplinary telehealth-based approach in a short while.


Assuntos
COVID-19 , Psiquiatria , Telemedicina , Criança , Humanos , Pandemias , SARS-CoV-2
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